ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.560C>T (p.Thr187Ile) (rs371583734)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000586266 SCV000233345 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in ClinVar with conflicting classifications (ClinVar Variant ID# 199711; Landrum et al., 2016); Wooderchak-Donahue W et al. (2015) Am J Med Genet A 167A (8):1747-57 (PMID: 25944730); This variant is associated with the following publications: (PMID: 25944730)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586266 SCV000695377 benign not provided 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000698663 SCV000827343 uncertain significance Ehlers-Danlos syndrome, type 4 2020-05-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 187 of the COL3A1 protein (p.Thr187Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs371583734, ExAC 0.07%). This variant has been observed in an individual affected with Marfan syndrome (PMID: 25944730). ClinVar contains an entry for this variant (Variation ID: 199711). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Not available; Align-GVGD: Class C0). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV001190472 SCV001357972 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-15 criteria provided, single submitter clinical testing

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